A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9768



Internal ID15500994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25256824..25441125hg38UCSC Ensembl
Outerchr1:25583315..25767616hg19UCSC Ensembl
Outerchr1:25455902..25640203hg18UCSC Ensembl
Outerchr1:25328634..25512932hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38184302
hg19184302
hg18184302
hg17184299
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13416, nssv15450, nssv15763, nssv13771, nssv15435, nssv12115, nssv13438, nssv12770, nssv13100, nssv15764, nssv15111, nssv13083, nssv14749, nssv13418, nssv13434, nssv13088, nssv15434, nssv14745, nssv16428, nssv13764, nssv17404, nssv14742, nssv13086, nssv15433, nssv17074, nssv14747, nssv29252, nssv15105, nssv18443, nssv13743, nssv14101, nssv16094, nssv12776, nssv13413, nssv13108, nssv12772, nssv14751, nssv16744, nssv13106, nssv15102, nssv14417
SamplesNA18502, NA18980, NA18504, NA12155, NA18563, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA18572, NA19221, NA18537, NA18853, NA18517, NA18564, NA19240, NA19144, NA18972
Known GenesRHCE, RHD, TMEM50A, TMEM57
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9768
Frequency
Sample Size31
Observed Gain21
Observed Loss1
Observed Complex0
Frequencyn/a


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